SPTLC2 (serine palmitoyltransferase long chain base subunit 2)

2014-11-01  

Identity

HGNC
SPTLC2
LOCATION
14q24.3
LOCUSID
9517
ALIAS
HSN1C,LCB2,LCB2A,NSAN1C,SPT2,hLCB2a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9517
MIM: 605713
HGNC: 11278
Ensembl: ENSG00000100596

Variants:

dbSNP: 9517
ClinVar: 9517
TCGA: ENSG00000100596
COSMIC: SPTLC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100596ENST00000216484O15270
ENSG00000100596ENST00000216484A0A024R6H1
ENSG00000100596ENST00000554901H0YJV2
ENSG00000100596ENST00000556607H0YJ96

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

References

Pubmed IDYearTitleCitations
380416792024Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.4
380416842024Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.4
383169662024SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.1
380416792024Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.4
380416842024Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.4
383169662024SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.1
369663282023Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.5
371076892023Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.0
369663282023Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.5
371076892023Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.0
335587622021Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.37
340900202021Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.2
335587622021Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.37
340900202021Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.2
330314022020Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease.4

Citation

Dessen P

SPTLC2 (serine palmitoyltransferase long chain base subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74218